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Disease	Synonyms	Description	Articles
hyperkalemic periodic paralysis	familial hyperkalemic periodic paralysis; familial.. [+] familial hyperkalemic periodic paralysis; familial hyperkalemic periodic paralysis (disorder) [Ambiguous]; familial hyperkalemic periodic paralysis (disorder); hyperkalemic periodic paralysis (disorder) [-]	n_a	2 articles
hypokalemic periodic paralysis	familial periodic paralysis; familial hypokalemic .. [+] familial periodic paralysis; familial hypokalemic periodic paralysis; familial periodic paralysis (& [hypokalaemic]); familial hypokalemic periodic paralysis (disorder); Hypokalemic familial periodic paralysis; Hypokalemic periodic paralysis (disorder); periodic hypokalemic paralysis; Hypokalemic periodic paralysis; Periodic paralysis I; Westphal disease [-]	n_a	5 articles
Sjogren-Larsson syndrome	fatty acid alcohol oxidoreductase deficiency; FALD.. [+] fatty acid alcohol oxidoreductase deficiency; FALDH deficiency; Sjogren Larsson syndrome; Sjogren-Larsson syndrome (disorder); Sjogren-Larsson's syndrome; SLS [-]	A syndrome that is characterized by ichthyosis, me..[+] A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. [-]
multiple intestinal atresia	familial intestinal polyatresia syndrome; Multiple.. [+] familial intestinal polyatresia syndrome; Multiple gastrointestinal atresias (disorder); GIDID; MEDDRA:10028210; Multiple gastrointestinal atresias; gastrointestinal defects and immunodeficiency syndrome [-]	An intestinal disease characterized by the presenc..[+] An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. [-]
benign familial neonatal epilepsy	familial neonatal seizures; familial neonatal seiz.. [+] familial neonatal seizures; familial neonatal seizures (disorder) [-]	n_a	3 articles
Blount's disease	familial infantile type osteochondrosis deformans .. [+] familial infantile type osteochondrosis deformans tibiae; Blount disease [-]	An osteochondrodysplasia that results_in inward tu..[+] An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. [-]
amodiaquine allergy	Flavoquine allergy; Camoquin allergy	A drug allergy that has_allergic_trigger amodiaqui..[+] A drug allergy that has_allergic_trigger amodiaquine. [-]
ceftazidime allergy	Fortaz allergy; Tazicef allergy	A cephalosporin allergy that has_allergic_trigger ..[+] A cephalosporin allergy that has_allergic_trigger ceftazidime. [-]
Rocky Mountain spotted fever	Fiebre maculosa; Fiebre manchada; Brazillian spott.. [+] Fiebre manchada; Fiebre maculosa; Brazillian spotted; Choix; Exanthematic typhus of Sao Paulo; Sao Paulo typhus; So Paulo fever; Tick typhus; Tobia fever; Brazilian spotted [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. [-]
interstitial lung disease 2	FIBROCYSTIC PULMONARY DYSPLASIA; cryptogenic fibro.. [+] FIBROCYSTIC PULMONARY DYSPLASIA; cryptogenic fibrosing alveolitis; IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL; idiopathic pulmonary fibrosis [-]	An interstitial lung disease pulmonary fibrosis th..[+] An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. [-]	1 articles
desquamative interstitial pneumonia	familial desquamative interstitial pneumonitis; RB.. [+] familial desquamative interstitial pneumonitis; RBILD; respiratory bronchiolitis-associated interstitial lung disease [-]	An idiopathic interstitial pneumonia that is chara..[+] An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. [-]
tick-borne encephalitis	Far Eastern TBE; Russian spring-summer encephaliti.. [+] Far Eastern TBE; Russian spring-summer encephalitis; Siberian tick-borne encephalitis; west-Siberian encephalitis; Western European tick-borne encephalitis; Central European encephalitis; Taiga encephalitis [-]	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. [-]
Costello syndrome	FCS SYNDROME; Faciocutaneoskeletal Syndrome	A RASopathy characterized by craniofacial dysmorph..[+] A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. [-]	1 articles
endemic typhus	fleaborne typhus; cat flea rickettsiosis; murine t.. [+] fleaborne typhus; cat flea rickettsiosis; murine typhus; Rat-Flea Typhus; Rickettsia felis spotted fever; Shop typhus; toulon typhus; urban typhus; Urban Typhus of Malaya [-]	A typhus that has_material_basis_in Rickettsia typ..[+] A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. [-]
exudative vitreoretinopathy	FEVR; familial exudative vitreoretinopathy	A retinal vascular disease characterized by the pr..[+] A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. [-]	2 articles
hereditary sensory neuropathy	familial dysautonomia, type II; congenital insensi.. [+] familial dysautonomia, type II; congenital insensitivity to pain; hereditary sensory and autonomic neuropathy [-]	A neuropathy characterized by congenital insensiti..[+] A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. [-]	2 articles
tooth agenesis	familial tooth agenesis; hypodontia; oligodontia; .. [+] familial tooth agenesis; hypodontia; oligodontia; selective tooth agenesis [-]	A tooth disease characterized by failure to develo..[+] A tooth disease characterized by failure to develop one or more missing teeth. [-]	1 articles
advanced sleep phase syndrome	familial advanced sleep-phase syndrome	A sleep disorder that involves an altered circadia..[+] A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. [-]
Aland Island eye disease	FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; Forsius-Eri.. [+] FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; Forsius-Eriksson syndrome [-]	An eye disease characterized by fundus hypopigment..[+] An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. [-]
transthyretin amyloidosis	Familial transthyretin amyloidosis; familial amylo.. [+] Familial transthyretin amyloidosis; familial amyloid polyneuropathy; Amyloidosis, hereditary, transthyretin-related; transthyretin-related hereditary amyloidosis; TTR amyloidosis; paramyloidosis; Corino de Andrade's disease; ATTR amyloidosis; ATTRm amyloidosis [-]	An amyloidosis that is characterized by a loss of ..[+] An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. [-]
primary cutaneous amyloidosis	familial primary localized cutaneous amyloidosis; .. [+] familial primary localized cutaneous amyloidosis; PCA [-]	An amyloidosis characterized by pruritus, skin scr..[+] An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. [-]
distal arthrogryposis	Freeman-Sheldon syndrome variant; Freeman-Sheldon .. [+] Freeman-Sheldon syndrome variant; Freeman-Sheldon syndrome; Arthrogryposis Multiplex Congenita; Sheldon-Hall syndrome [-]	A muscle tissue disease characterized by congenita..[+] A muscle tissue disease characterized by congenital joint contractures of hand and feet. [-]	3 articles
Arts syndrome	fatal X-linked ataxia with deafness and loss of vi.. [+] fatal X-linked ataxia with deafness and loss of vision; ARTS; MRXSARTS; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; Lethal ataxia with deafness and optic atrophy; MRXS18 [-]	An X-linked disease that is characterized by profo..[+] An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [-]
atransferrinemia	familial hypotransferrinemia	A metal metabolism disorder that is characterized ..[+] A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. [-]
COX deficiency, infantile mitochondrial myopathy	fatal infantile cardioencephalomyopathy due to cyt.. [+] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile COX deficiency; fatal infantile encephalocardiomyopathy; fatal infantile cytochrome C oxidase deficiency; cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [-]	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. [-]
polycystic liver disease	fibrocystic liver disease; congenital cystic liver.. [+] fibrocystic liver disease; congenital cystic liver disease; congenital hepatic cyst [-]	A liver disease that is characterized by the prese..[+] A liver disease that is characterized by the presence of multiple cysts located_in the liver. [-]
generalized dystonia	familial dystonia; fragments of torsion dystonia; .. [+] fragments of torsion dystonia; familial dystonia; Dystonia 12; dystonia musculorum deformans; idiopathic familial dystonia; Idiopathic torsion dystonia; symptomatic torsion dystonia; dystonia deformans progressiva; idiopathic non-familial dystonia [-]	A dystonia that affects most or all of the body.
dropped head syndrome	floppy head syndrome	A spinal disease that is characterized by severe k..[+] A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. [-]
popliteal pterygium syndrome	facio-genito-popliteal syndrome; popliteal web syn.. [+] facio-genito-popliteal syndrome; popliteal web syndrome [-]	A syndrome characterized by abnormal development o..[+] A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. [-]
gamma heavy chain disease	Franklin's disease	A heavy chain disease that results from an overpro..[+] A heavy chain disease that results from an overproduction of gamma antibody (IgG). [-]
intracranial berry aneurysm	familial berry aneurysm; familial aneurysmal subar.. [+] familial berry aneurysm; familial aneurysmal subarachnoid hemorrhage; familial intracranial saccular aneurysm; saccular cerebral aneurysm [-]	An intracranial aneurysm with a characteristic rou..[+] An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. [-]
basal ganglia calcification	Fahr disease	A basal ganglia disease characterized by the prese..[+] A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. [-]
stuttering	familial persistent stuttering; stammering	An articulation disorder characterized by involunt..[+] An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. [-]
Robinow syndrome	fetal face syndrome; acral dysostosis with facial .. [+] fetal face syndrome; acral dysostosis with facial and genital abnormalities; Robinow dwarfism [-]	A syndrome characterized by mild to moderate short..[+] A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. [-]	1 articles
peeling skin syndrome	familial continuous skin peeling syndrome; deciduo.. [+] familial continuous skin peeling syndrome; deciduous skin; keratosis exfoliativa congenita; peeling skin disease; PSS [-]	A skin disease that is characterized by the painle..[+] A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. [-]
cornea plana	flat cornea	A corneal disease that is characterized by a flat ..[+] A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. [-]
brown shrimp allergy	Farfantepenaeus aztecus allergy	A crustacean allergy triggered by Farfantepenaeus ..[+] A crustacean allergy triggered by Farfantepenaeus aztecus. [-]
Indian prawn allergy	Fenneropenaeus indicus allergy	A crustacean allergy triggered by Fenneropenaeus i..[+] A crustacean allergy triggered by Fenneropenaeus indicus. [-]
cerebral cavernous malformation	familial cavernous angioma; cavernous angiomatous .. [+] familial cavernous angioma; cavernous angiomatous malformations; CCM; cerebral capillary malformations [-]	A cerebrovascular disease that is characterized by..[+] A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. [-]
hyperekplexia	familial startle disease; congenital stiff man syn.. [+] familial startle disease; congenital stiff man syndrome; hereditary hyperekplexia; Kok disease; startle disease [-]	A nervous system disease characterized by an exagg..[+] A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. [-]	6 articles
Muenke Syndrome	FGFR3-related craniosynostosis	A craniosyntosis characterized by autosomal domina..[+] A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. [-]
syndromic X-linked intellectual disability 5	Fried syndrome; MRX59; MRXS21; Pettigrew syndrome; .. [+] Fried syndrome; MRX59; MRXS21; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type; X-linked mental retardation 59; Mental retardation, X-linked syndromic 5; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. [-]
hereditary neuropathy with liability to pressure palsies	familial recurrent polyneuropathy; current pressur.. [+] familial recurrent polyneuropathy; current pressure-sensitive neuropathy; HNPP; tomaculous neuropathy; heterozygous microdeletion 17p11.2p12; potato-grubbing palsy; tulip-bulb digger's palsy [-]	A neuropathy characterized by autosomal dominant i..[+] A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. [-]
developmental and epileptic encephalopathy 9	female restricted epilepsy with mental retardation.. [+] female restricted epilepsy with mental retardation; early infantile female-limited epilecptic encephalopathy; EFMR; EIEE9; DEE9; early infantile epileptic encephalopathy 9; Juberg Hellman syndrome [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
pemphigus vulgaris	familial pemphigus vulgaris	A pemphigus characterized by autosomal dominant bl..[+] A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. [-]
isolated growth hormone deficiency	familial isolated growth hormone deficiency; conge.. [+] familial isolated growth hormone deficiency; congenital isolated GH deficiency; non-acquired isolated growth hormone deficiency; congenital isolated growth hormone deficiency; congenital IGHD; IGHD [-]	A hypopituitarism characterized by abnormally low ..[+] A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. [-]
isolated growth hormone deficiency type III	Fleisher syndrome; congenital isolated GH deficien.. [+] Fleisher syndrome; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; growth hormone deficiency with hypogammaglobulinemia; IGHD III; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency; congenital IGHD type III; X-linked hypogammaglobulinemia and isolated growth hormone deficiency [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. [-]
renal hypomagnesemia 3	FHHNC without severe ocular involvement; familial .. [+] FHHNC without severe ocular involvement; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; isolated renal hypomagnesemia; primary hypomagnesemia due to defect in renal tubular transport of magnesium; HOMG3; renal hypomagnesemia type 3 [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. [-]
renal hypomagnesemia 5 with ocular involvement	FHHNC with severe ocular involvement; familial hyp.. [+] FHHNC with severe ocular involvement; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; bilateral macular coloboma with hypercalciuria; hypercalciuria-bilateral macular coloboma syndrome; Meier-Blumberg-Imahorn syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
legume allergy	Fabaceae allergy	A fruit allergy triggered by Fabaceae (legume) pla..[+] A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. [-]

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